Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24240614G>ACA389225328TINF2c.866C>T (p.Pro289Leu)
c.758C>T (p.Pro253Leu)
c.761C>T (p.Pro254Leu)
c.428C>T (p.Pro143Leu)
c.*238C>T (p.=)
n.592C>T
n.757+65C>T
c.*246C>T (p.=)
c.224C>T (p.Pro75Leu)
14g.24240614G>CCA389225332TINF2c.866C>G (p.Pro289Arg)
c.758C>G (p.Pro253Arg)
c.761C>G (p.Pro254Arg)
c.428C>G (p.Pro143Arg)
c.*238C>G (p.=)
n.592C>G
n.757+65C>G
c.*246C>G (p.=)
c.224C>G (p.Pro75Arg)
14g.24240614G>TCA389225334TINF2c.866C>A (p.Pro289His)
c.758C>A (p.Pro253His)
c.761C>A (p.Pro254His)
c.428C>A (p.Pro143His)
c.*238C>A (p.=)
n.592C>A
n.757+65C>A
c.*246C>A (p.=)
c.224C>A (p.Pro75His)
14g.24240614_24240615delinsCTCA343191TINF2c.865_866delinsAG (p.Pro289Ser)
c.757_758delinsAG (p.Pro253Ser)
c.760_761delinsAG (p.Pro254Ser)
c.427_428delinsAG (p.Pro143Ser)
c.*237_*238delinsAG (p.=)
n.591_592delinsAG
n.757+64_757+65delinsAG
c.*245_*246delinsAG (p.=)
c.223_224delinsAG (p.Pro75Ser)
ClinVar dbSNP
14g.24240614_24240615delinsGGCA2123849290TINF2c.865_866delinsCC (p.Pro289=)
c.757_758delinsCC (p.Pro253=)
c.760_761delinsCC (p.Pro254=)
c.427_428delinsCC (p.Pro143=)
c.*237_*238delinsCC (p.=)
n.591_592delinsCC
n.757+64_757+65delinsCC
c.*245_*246delinsCC (p.=)
c.223_224delinsCC (p.Pro75=)
14g.24240615G>ACA389225339TINF2c.865C>T (p.Pro289Ser)
c.757C>T (p.Pro253Ser)
c.760C>T (p.Pro254Ser)
c.427C>T (p.Pro143Ser)
c.*237C>T (p.=)
n.591C>T
n.757+64C>T
c.*245C>T (p.=)
c.223C>T (p.Pro75Ser)
ClinVar
14g.24240615G>CCA389225345TINF2c.865C>G (p.Pro289Ala)
c.757C>G (p.Pro253Ala)
c.760C>G (p.Pro254Ala)
c.427C>G (p.Pro143Ala)
c.*237C>G (p.=)
n.591C>G
n.757+64C>G
c.*245C>G (p.=)
c.223C>G (p.Pro75Ala)
14g.24240615G=CA2123849291TINF2c.865C= (p.Pro289=)
c.757C= (p.Pro253=)
c.760C= (p.Pro254=)
c.427C= (p.Pro143=)
c.*237C= (p.=)
n.591C=
n.757+64C=
c.*245C= (p.=)
c.223C= (p.Pro75=)
14g.24240615G>TCA389225348TINF2c.865C>A (p.Pro289Thr)
c.757C>A (p.Pro253Thr)
c.760C>A (p.Pro254Thr)
c.427C>A (p.Pro143Thr)
c.*237C>A (p.=)
n.591C>A
n.757+64C>A
c.*245C>A (p.=)
c.223C>A (p.Pro75Thr)
14g.24240616A>CCA389225356TINF2c.864T>G (p.Phe288Leu)
c.756T>G (p.Phe252Leu)
c.759T>G (p.Phe253Leu)
c.426T>G (p.Phe142Leu)
c.*236T>G (p.=)
n.590T>G
n.757+63T>G
c.*244T>G (p.=)
c.222T>G (p.Phe74Leu)
14g.24240616A>GCA485782125TINF2c.864T>C (p.Phe288=)
c.756T>C (p.Phe252=)
c.759T>C (p.Phe253=)
c.426T>C (p.Phe142=)
c.*236T>C (p.=)
n.590T>C
n.757+63T>C
c.*244T>C (p.=)
c.222T>C (p.Phe74=)
14g.24240616A>TCA389225360TINF2c.864T>A (p.Phe288Leu)
c.756T>A (p.Phe252Leu)
c.759T>A (p.Phe253Leu)
c.426T>A (p.Phe142Leu)
c.*236T>A (p.=)
n.590T>A
n.757+63T>A
c.*244T>A (p.=)
c.222T>A (p.Phe74Leu)
14g.24240617A>CCA389225371TINF2c.863T>G (p.Phe288Cys)
c.755T>G (p.Phe252Cys)
c.758T>G (p.Phe253Cys)
c.425T>G (p.Phe142Cys)
c.*235T>G (p.=)
n.589T>G
n.757+62T>G
c.*243T>G (p.=)
c.221T>G (p.Phe74Cys)
14g.24240617A>GCA389225377TINF2c.863T>C (p.Phe288Ser)
c.755T>C (p.Phe252Ser)
c.758T>C (p.Phe253Ser)
c.425T>C (p.Phe142Ser)
c.*235T>C (p.=)
n.589T>C
n.757+62T>C
c.*243T>C (p.=)
c.221T>C (p.Phe74Ser)
14g.24240617A>TCA389225386TINF2c.863T>A (p.Phe288Tyr)
c.755T>A (p.Phe252Tyr)
c.758T>A (p.Phe253Tyr)
c.425T>A (p.Phe142Tyr)
c.*235T>A (p.=)
n.589T>A
n.757+62T>A
c.*243T>A (p.=)
c.221T>A (p.Phe74Tyr)
14g.24240618A=CA2123849292TINF2c.862T= (p.Phe288=)
c.754T= (p.Phe252=)
c.757T= (p.Phe253=)
c.424T= (p.Phe142=)
c.*234T= (p.=)
n.588T=
n.757+61T=
c.*242T= (p.=)
c.220T= (p.Phe74=)
14g.24240618A>CCA389225396TINF2c.862T>G (p.Phe288Val)
c.754T>G (p.Phe252Val)
c.757T>G (p.Phe253Val)
c.424T>G (p.Phe142Val)
c.*234T>G (p.=)
n.588T>G
n.757+61T>G
c.*242T>G (p.=)
c.220T>G (p.Phe74Val)
14g.24240618A>GCA343189TINF2c.862T>C (p.Phe288Leu)
c.754T>C (p.Phe252Leu)
c.757T>C (p.Phe253Leu)
c.424T>C (p.Phe142Leu)
c.*234T>C (p.=)
n.588T>C
n.757+61T>C
c.*242T>C (p.=)
c.220T>C (p.Phe74Leu)
ClinVar dbSNP
14g.24240618A>TCA389225391TINF2c.862T>A (p.Phe288Ile)
c.754T>A (p.Phe252Ile)
c.757T>A (p.Phe253Ile)
c.424T>A (p.Phe142Ile)
c.*234T>A (p.=)
n.588T>A
n.757+61T>A
c.*242T>A (p.=)
c.220T>A (p.Phe74Ile)
14g.24240619C>ACA485782126TINF2c.861G>T (p.Leu287=)
c.753G>T (p.Leu251=)
c.756G>T (p.Leu252=)
c.423G>T (p.Leu141=)
c.*233G>T (p.=)
n.587G>T
n.757+60G>T
c.*241G>T (p.=)
c.219G>T (p.Leu73=)
14g.24240619C=CA2123849293TINF2c.861G= (p.Leu287=)
c.753G= (p.Leu251=)
c.756G= (p.Leu252=)
c.423G= (p.Leu141=)
c.*233G= (p.=)
n.587G=
n.757+60G=
c.*241G= (p.=)
c.219G= (p.Leu73=)
14g.24240619C>GCA7130552TINF2c.861G>C (p.Leu287=)
c.753G>C (p.Leu251=)
c.756G>C (p.Leu252=)
c.423G>C (p.Leu141=)
c.*233G>C (p.=)
n.587G>C
n.757+60G>C
c.*241G>C (p.=)
c.219G>C (p.Leu73=)
ClinVar dbSNP ExAC gnomAD
14g.24240619C>TCA485782127TINF2c.861G>A (p.Leu287=)
c.753G>A (p.Leu251=)
c.756G>A (p.Leu252=)
c.423G>A (p.Leu141=)
c.*233G>A (p.=)
n.587G>A
n.757+60G>A
c.*241G>A (p.=)
c.219G>A (p.Leu73=)
14g.24240620A=CA2123849294TINF2c.860T= (p.Leu287=)
c.752T= (p.Leu251=)
c.755T= (p.Leu252=)
c.422T= (p.Leu141=)
c.*232T= (p.=)
n.586T=
n.757+59T=
c.*240T= (p.=)
c.218T= (p.Leu73=)
14g.24240620A>CCA389225400TINF2c.860T>G (p.Leu287Arg)
c.752T>G (p.Leu251Arg)
c.755T>G (p.Leu252Arg)
c.422T>G (p.Leu141Arg)
c.*232T>G (p.=)
n.586T>G
n.757+59T>G
c.*240T>G (p.=)
c.218T>G (p.Leu73Arg)
COSMIC COSMIC
14g.24240620A>GCA343187TINF2c.860T>C (p.Leu287Pro)
c.752T>C (p.Leu251Pro)
c.755T>C (p.Leu252Pro)
c.422T>C (p.Leu141Pro)
c.*232T>C (p.=)
n.586T>C
n.757+59T>C
c.*240T>C (p.=)
c.218T>C (p.Leu73Pro)
ClinVar dbSNP
14g.24240620A>TCA389225406TINF2c.860T>A (p.Leu287Gln)
c.752T>A (p.Leu251Gln)
c.755T>A (p.Leu252Gln)
c.422T>A (p.Leu141Gln)
c.*232T>A (p.=)
n.586T>A
n.757+59T>A
c.*240T>A (p.=)
c.218T>A (p.Leu73Gln)
14g.24240621G>ACA485782128TINF2c.859C>T (p.Leu287=)
c.751C>T (p.Leu251=)
c.754C>T (p.Leu252=)
c.421C>T (p.Leu141=)
c.*231C>T (p.=)
n.585C>T
n.757+58C>T
c.*239C>T (p.=)
c.217C>T (p.Leu73=)
14g.24240621G>CCA389225409TINF2c.859C>G (p.Leu287Val)
c.751C>G (p.Leu251Val)
c.754C>G (p.Leu252Val)
c.421C>G (p.Leu141Val)
c.*231C>G (p.=)
n.585C>G
n.757+58C>G
c.*239C>G (p.=)
c.217C>G (p.Leu73Val)
14g.24240621G>TCA389225414TINF2c.859C>A (p.Leu287Met)
c.751C>A (p.Leu251Met)
c.754C>A (p.Leu252Met)
c.421C>A (p.Leu141Met)
c.*231C>A (p.=)
n.585C>A
n.757+58C>A
c.*239C>A (p.=)
c.217C>A (p.Leu73Met)
14g.24240622C>ACA389225421TINF2c.858G>T (p.Met286Ile)
c.750G>T (p.Met250Ile)
c.753G>T (p.Met251Ile)
c.420G>T (p.Met140Ile)
c.*230G>T (p.=)
n.584G>T
n.757+57G>T
c.*238G>T (p.=)
c.216G>T (p.Met72Ile)
14g.24240622C>GCA389225422TINF2c.858G>C (p.Met286Ile)
c.750G>C (p.Met250Ile)
c.753G>C (p.Met251Ile)
c.420G>C (p.Met140Ile)
c.*230G>C (p.=)
n.584G>C
n.757+57G>C
c.*238G>C (p.=)
c.216G>C (p.Met72Ile)
14g.24240622C>TCA389225423TINF2c.858G>A (p.Met286Ile)
c.750G>A (p.Met250Ile)
c.753G>A (p.Met251Ile)
c.420G>A (p.Met140Ile)
c.*230G>A (p.=)
n.584G>A
n.757+57G>A
c.*238G>A (p.=)
c.216G>A (p.Met72Ile)
14g.24240623A>CCA389225426TINF2c.857T>G (p.Met286Arg)
c.749T>G (p.Met250Arg)
c.752T>G (p.Met251Arg)
c.419T>G (p.Met140Arg)
c.*229T>G (p.=)
n.583T>G
n.757+56T>G
c.*237T>G (p.=)
c.215T>G (p.Met72Arg)
14g.24240623A>GCA389225431TINF2c.857T>C (p.Met286Thr)
c.749T>C (p.Met250Thr)
c.752T>C (p.Met251Thr)
c.419T>C (p.Met140Thr)
c.*229T>C (p.=)
n.583T>C
n.757+56T>C
c.*237T>C (p.=)
c.215T>C (p.Met72Thr)
14g.24240623A>TCA389225433TINF2c.857T>A (p.Met286Lys)
c.749T>A (p.Met250Lys)
c.752T>A (p.Met251Lys)
c.419T>A (p.Met140Lys)
c.*229T>A (p.=)
n.583T>A
n.757+56T>A
c.*237T>A (p.=)
c.215T>A (p.Met72Lys)
14g.24240624T>ACA389225440TINF2c.856A>T (p.Met286Leu)
c.748A>T (p.Met250Leu)
c.751A>T (p.Met251Leu)
c.418A>T (p.Met140Leu)
c.*228A>T (p.=)
n.582A>T
n.757+55A>T
c.*236A>T (p.=)
c.214A>T (p.Met72Leu)
14g.24240624T>CCA389225438TINF2c.856A>G (p.Met286Val)
c.748A>G (p.Met250Val)
c.751A>G (p.Met251Val)
c.418A>G (p.Met140Val)
c.*228A>G (p.=)
n.582A>G
n.757+55A>G
c.*236A>G (p.=)
c.214A>G (p.Met72Val)
COSMIC COSMIC
14g.24240624T>GCA389225437TINF2c.856A>C (p.Met286Leu)
c.748A>C (p.Met250Leu)
c.751A>C (p.Met251Leu)
c.418A>C (p.Met140Leu)
c.*228A>C (p.=)
n.582A>C
n.757+55A>C
c.*236A>C (p.=)
c.214A>C (p.Met72Leu)
14g.24240624T=CA2123849295TINF2c.856A= (p.Met286=)
c.748A= (p.Met250=)
c.751A= (p.Met251=)
c.418A= (p.Met140=)
c.*228A= (p.=)
n.582A=
n.757+55A=
c.*236A= (p.=)
c.214A= (p.Met72=)
14g.24240625G>ACA7130553TINF2c.855C>T (p.Val285=)
c.747C>T (p.Val249=)
c.750C>T (p.Val250=)
c.417C>T (p.Val139=)
c.*227C>T (p.=)
n.581C>T
n.757+54C>T
c.*235C>T (p.=)
c.213C>T (p.Val71=)
dbSNP ExAC gnomAD
14g.24240625G>CCA485782129TINF2c.855C>G (p.Val285=)
c.747C>G (p.Val249=)
c.750C>G (p.Val250=)
c.417C>G (p.Val139=)
c.*227C>G (p.=)
n.581C>G
n.757+54C>G
c.*235C>G (p.=)
c.213C>G (p.Val71=)
14g.24240625G=CA2123849296TINF2c.855C= (p.Val285=)
c.747C= (p.Val249=)
c.750C= (p.Val250=)
c.417C= (p.Val139=)
c.*227C= (p.=)
n.581C=
n.757+54C=
c.*235C= (p.=)
c.213C= (p.Val71=)
14g.24240625G>TCA485782130TINF2c.855C>A (p.Val285=)
c.747C>A (p.Val249=)
c.750C>A (p.Val250=)
c.417C>A (p.Val139=)
c.*227C>A (p.=)
n.581C>A
n.757+54C>A
c.*235C>A (p.=)
c.213C>A (p.Val71=)
14g.24240626A>CCA389225444TINF2c.854T>G (p.Val285Gly)
c.746T>G (p.Val249Gly)
c.749T>G (p.Val250Gly)
c.416T>G (p.Val139Gly)
c.*226T>G (p.=)
n.580T>G
n.757+53T>G
c.*234T>G (p.=)
c.212T>G (p.Val71Gly)
14g.24240626A>GCA389225449TINF2c.854T>C (p.Val285Ala)
c.746T>C (p.Val249Ala)
c.749T>C (p.Val250Ala)
c.416T>C (p.Val139Ala)
c.*226T>C (p.=)
n.580T>C
n.757+53T>C
c.*234T>C (p.=)
c.212T>C (p.Val71Ala)
14g.24240626A>TCA389225445TINF2c.854T>A (p.Val285Asp)
c.746T>A (p.Val249Asp)
c.749T>A (p.Val250Asp)
c.416T>A (p.Val139Asp)
c.*226T>A (p.=)
n.580T>A
n.757+53T>A
c.*234T>A (p.=)
c.212T>A (p.Val71Asp)
14g.24240627C>ACA389225450TINF2c.853G>T (p.Val285Phe)
c.745G>T (p.Val249Phe)
c.748G>T (p.Val250Phe)
c.415G>T (p.Val139Phe)
c.*225G>T (p.=)
n.579G>T
n.757+52G>T
c.*233G>T (p.=)
c.211G>T (p.Val71Phe)
14g.24240627C>GCA389225451TINF2c.853G>C (p.Val285Leu)
c.745G>C (p.Val249Leu)
c.748G>C (p.Val250Leu)
c.415G>C (p.Val139Leu)
c.*225G>C (p.=)
n.579G>C
n.757+52G>C
c.*233G>C (p.=)
c.211G>C (p.Val71Leu)
14g.24240627C>TCA389225452TINF2c.853G>A (p.Val285Ile)
c.745G>A (p.Val249Ile)
c.748G>A (p.Val250Ile)
c.415G>A (p.Val139Ile)
c.*225G>A (p.=)
n.579G>A
n.757+52G>A
c.*233G>A (p.=)
c.211G>A (p.Val71Ile)

Number of alleles fetched